Systemic sclerosis (SSc) is a rare immune-mediated vasculopathy characterized by fibrosis of the skin and internal organs. Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the GLA gene producing α-galactosidase-A enzyme (α-Gal A) deficiency. Being a systemic disease, cardiac involvement in FD has a high mortality rate due to heart failure and arrhythmia. The coexistence of these two entities has not been reported previously. We describe the case of a female patient with limited SSc (lcSSc), a diagnosis based on the presence of sclerodactyly, Raynaud phenomenon, microvascular involvement, and positive anti-centromere antibodies. On follow-up, she developed chest pain, a second-degree A-V block, and restrictive cardiomyopathy (without cardiovascular risk factors). Although heart involvement is common in these two entities, the abnormal thickening of lateral and inferior wall, the infiltration pattern and the conduction system disorders presented herein are more characteristic in a heterozygous female with a cardiac variant of FD. The diagnosis of FD was confirmed with high globotriaosylsphingosine (Lyso-Gb3) levels and identification of GLA gene mutation. The patient was treated with enzymatic replacement (agalsidase alpha) following mild improvement in ventricular mass at 6th month, without clinical deterioration. The related literature on SSc associated with FD is also reviewed.

中文翻译：

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系统性硬化症和法布里病患者的限制性心肌病：基于病例的综述。

系统性硬化症（SSc）是一种罕见的免疫介导性血管病，其特征在于皮肤和内部器官的纤维化。法布里病（FD）是由X连锁的溶酶体贮积病，由导致产生α-半乳糖苷酶-A酶（α-GalA）缺乏的GLA基因突变引起。作为一种全身性疾病，FD患者的心脏受累因心力衰竭和心律不齐而导致很高的死亡率。这两个实体的共存以前没有被报道过。我们描述了SSc（lcSSc）受限的女性患者的情况，该诊断基于硬化，雷诺现象，微血管受累和抗着丝粒抗体阳性的存在。随访时，她出现胸痛，二级房室传导阻滞和限制性心肌病（无心血管危险因素）。尽管心脏受累在这两个实体中很常见，但此处显示的侧壁和下壁异常增厚，浸润模式和传导系统异常在具有FD心脏变异的杂合女性中更具特征。FD的诊断通过高球果糖基鞘氨醇（Lyso-Gb3）水平和GLA基因突变的鉴定得到证实。患者在第6个月的心室质量轻度改善后进行了酶促替代治疗（阿加糖苷酶α），而无临床恶化。还回顾了与FD相关的SSc的相关文献。FD的诊断通过高球果糖基鞘氨醇（Lyso-Gb3）水平和GLA基因突变的鉴定得到证实。在第6个月心室质量轻度改善后，用酶促替代物（阿加糖苷酶α）治疗该患者，而无临床恶化。还回顾了与FD相关的SSc的相关文献。FD的诊断通过高球果糖基鞘氨醇（Lyso-Gb3）水平和GLA基因突变的鉴定得到证实。在第6个月心室质量轻度改善后，用酶促替代物（阿加糖苷酶α）治疗该患者，而无临床恶化。还回顾了与FD相关的SSc的相关文献。